A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695450



Internal ID13379889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102662869..102671567hg38UCSC Ensembl
Innerchr7:102663869..102670567hg38UCSC Ensembl
Outerchr7:102661869..102672567hg38UCSC Ensembl
chr7:102303316..102312014hg19UCSC Ensembl
Innerchr7:102304316..102311014hg19UCSC Ensembl
Outerchr7:102302316..102313014hg19UCSC Ensembl
chr7:102090552..102099250hg18UCSC Ensembl
Innerchr7:102091552..102098250hg18UCSC Ensembl
Outerchr7:102089552..102100250hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388699
hg198699
hg188699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3331565
Supporting Variants
SamplesNA12892
Known GenesPOLR2J2, POLR2J3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695450
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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